Varaico: Literature-Extracted Genetic Variants

Gene:TREX1
Variant:p.C208S

TREX1

454 papers

RefSeq Summary

This gene encodes a nuclear protein with 3' exonuclease activity. The encoded protein may play a role in DNA repair and serve as a proofreading function for DNA polymerase. Mutations in this gene resu...

Gene Aliases

HGNC Name

three prime repair exonuclease 1

HGNC Previous Symbol

AGS1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_033629.6
p.C208S
c.622T>A
Surrounding Variants
6 papers
NM_033629.6
p.Q209_W210insFs
c.625_628dup4
2 papers
NM_033629.6
p.C208fs
c.622_623fs
1 paper
NM_033629.6
p.C208insFs
c.622dupT
1 paper
NM_033629.6
p.I207M
c.621C>G
1 paper
NM_033629.6
p.C208_Q209delFs
c.622_626del5
2 papers
NM_033629.6
p.C208S
c.623G>C
1 paper
NM_033629.6
p.I207fs
c.619_620fs
1 paper
NM_033629.6
p.I207_C208insG
c.619_623ins3
1 paper
NM_033629.6
p.Q209K
c.625C>A
1 paper
NM_033629.6
p.Q209R
c.626A>G
1 paper
NM_033629.6
p.S206N
c.617G>A
1 paper
NM_033629.6
p.Q209H
c.627G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."